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Aliases for HK1 Gene

Aliases for HK1 Gene

  • Hexokinase 1 2 3
  • Brain Form Hexokinase 3 4
  • Hexokinase Type I 3 4
  • EC 2.7.1.1 4 63
  • HK I 3 4
  • Glycolytic Enzyme 3
  • EC 2.7.1 63
  • HK1-Ta 3
  • HK1-Tb 3
  • HK1-Tc 3
  • HMSNR 3
  • HXK1 3
  • HKD 3
  • HKI 3

External Ids for HK1 Gene

Previous GeneCards Identifiers for HK1 Gene

  • GC10P069840
  • GC10P070116
  • GC10P070922
  • GC10P070374
  • GC10P070699
  • GC10P071031
  • GC10P065029

Summaries for HK1 Gene

Entrez Gene Summary for HK1 Gene

  • Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]

GeneCards Summary for HK1 Gene

HK1 (Hexokinase 1) is a Protein Coding gene. Diseases associated with HK1 include hemolytic anemia due to hexokinase deficiency and neuropathy, hereditary motor and sensory, russe type. Among its related pathways are Central carbon metabolism in cancer and Metabolism. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucokinase activity. An important paralog of this gene is HK2.

Tocris Summary for HK1 Gene

  • Hexokinases catalyze the first essential step of glucose metabolism, the conversion of the substrate glucose into glucose-6-phosphate. This phosphorylation event directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation.

Gene Wiki entry for HK1 Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HK1 Gene

Genomics for HK1 Gene

Regulatory Elements for HK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HK1 Gene

Chromosome:
10
Start:
69,269,984 bp from pter
End:
69,401,882 bp from pter
Size:
131,899 bases
Orientation:
Plus strand

Genomic View for HK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HK1 Gene

Proteins for HK1 Gene

  • Protein details for HK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19367-HXK1_HUMAN
    Recommended name:
    Hexokinase-1
    Protein Accession:
    P19367
    Secondary Accessions:
    • E9PCK0
    • O43443
    • O43444
    • O75574
    • Q5VTC3
    • Q96HC8
    • Q9NNZ4
    • Q9NNZ5

    Protein attributes for HK1 Gene

    Size:
    917 amino acids
    Molecular mass:
    102486 Da
    Quaternary structure:
    • Monomer. Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with VDAC1. The HK1-VDAC1 complex interacts with ATF2. Interacts (via N-terminal spermatogenic cell-specific region) with PFKM (via C-terminus) (By similarity).
    Miscellaneous:
    • In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase)

    Three dimensional structures from OCA and Proteopedia for HK1 Gene

    Alternative splice isoforms for HK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HK1 Gene

Proteomics data for HK1 Gene at MOPED

Post-translational modifications for HK1 Gene

  • Ubiquitination at Lys 191, Lys 333, and Lys 418
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HK1 (HK1)

Domains & Families for HK1 Gene

Protein Domains for HK1 Gene

Graphical View of Domain Structure for InterPro Entry

P19367

UniProtKB/Swiss-Prot:

HXK1_HUMAN :
  • The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule
  • Belongs to the hexokinase family.
Domain:
  • The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain can bind a single glucose and Gluc-6-P molecule
  • Contains 2 hexokinase domains.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with HK1: view

No data available for Gene Families for HK1 Gene

Function for HK1 Gene

Molecular function for HK1 Gene

GENATLAS Biochemistry:
hexokinase 1,108kDa,glycolysis and gluconeogenesis,energy pathway,red blood specific with two isoforms HK1,universally expressed,and an erythroid specific isoform AXR derived from the HK1 gene by the alternate use of a specific promoter and an alternative splicing
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-hexose = ADP + D-hexose 6-phosphate
UniProtKB/Swiss-Prot EnzymeRegulation:
Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P

Enzyme Numbers (IUBMB) for HK1 Gene

Gene Ontology (GO) - Molecular Function for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004340 glucokinase activity IBA --
GO:0004396 hexokinase activity TAS 3207429
GO:0005515 protein binding IPI 22304920
GO:0005524 ATP binding IEA --
GO:0005536 glucose binding IEA --
genes like me logo Genes that share ontologies with HK1: view
genes like me logo Genes that share phenotypes with HK1: view

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HK1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HK1 Gene

Localization for HK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HK1 Gene

Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HK1 Gene COMPARTMENTS Subcellular localization image for HK1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol TAS --
GO:0005929 cilium --
GO:0045121 membrane raft --
genes like me logo Genes that share ontologies with HK1: view

Pathways & Interactions for HK1 Gene

genes like me logo Genes that share pathways with HK1: view

UniProtKB/Swiss-Prot P19367-HXK1_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism

SIGNOR curated interactions for HK1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA --
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process TAS 3207429
GO:0008645 hexose transport TAS --
genes like me logo Genes that share ontologies with HK1: view

Drugs & Compounds for HK1 Gene

(15) Drugs for HK1 Gene - From: NovoSeek, HMDB, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Glucosamine Approved Nutra 51
Beta-D-Glucose Experimental Pharma Target 0
Glucose 6-phosphate Experimental Pharma 0
Alpha-D-Glucose-6-Phosphate Experimental Pharma Target 0

(23) Additional Compounds for HK1 Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Beta-D-Glucose 6-phosphate
  • beta-D-Glucose 6-(dihydrogen phosphate)
  • beta-D-Glucose 6-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
genes like me logo Genes that share compounds with HK1: view

Transcripts for HK1 Gene

Unigene Clusters for HK1 Gene

Hexokinase 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HK1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - - - - - - -
SP2: -
SP3: - - -
SP4: - -
SP5: -
SP6:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for HK1 Gene

GeneLoc Exon Structure for
HK1
ECgene alternative splicing isoforms for
HK1

Expression for HK1 Gene

mRNA expression in normal human tissues for HK1 Gene

Protein differential expression in normal tissues from HIPED for HK1 Gene

This gene is overexpressed in Brain (12.7), Frontal cortex (7.9), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for HK1 Gene



SOURCE GeneReport for Unigene cluster for HK1 Gene Hs.370365

mRNA Expression by UniProt/SwissProt for HK1 Gene

P19367-HXK1_HUMAN
Tissue specificity: Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific
genes like me logo Genes that share expression patterns with HK1: view

Protein tissue co-expression partners for HK1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HK1 Gene

Orthologs for HK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HK1 35
  • 89.46 (n)
  • 95.2 (a)
HK1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HK1 35
  • 90.51 (n)
  • 95.64 (a)
HK1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hk1 35
  • 86.8 (n)
  • 92.8 (a)
Hk1 16
Hk1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HK1 35
  • 98.9 (n)
  • 98.57 (a)
HK1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hk1 35
  • 86.72 (n)
  • 92.79 (a)
oppossum
(Monodelphis domestica)
Mammalia HK1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HK1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves HK1 35
  • 79.28 (n)
  • 88.05 (a)
HK1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hk1 35
  • 74.88 (n)
  • 86.09 (a)
African clawed frog
(Xenopus laevis)
Amphibia hk1-A 35
zebrafish
(Danio rerio)
Actinopterygii hk1 35
  • 75.13 (n)
  • 85.56 (a)
hk1 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hex-A 37
  • 46 (a)
Hex-C 37
  • 43 (a)
Hex-t1 37
  • 31 (a)
Hex-t2 37
  • 44 (a)
Hex-A 35
  • 55.28 (n)
  • 48.97 (a)
Hex-A 36
  • 38 (a)
ManyToMany
Hex-C 36
  • 40 (a)
ManyToMany
Hex-t1 36
  • 28 (a)
ManyToMany
Hex-t2 36
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F14B4.2 37
  • 46 (a)
H25P06.1 37
  • 39 (a)
Y77E11A.1 37
  • 34 (a)
F14B4.2 36
  • 43 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR279C 35
  • 51.19 (n)
  • 36.55 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11352g 35
  • 47.01 (n)
  • 37.22 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HXK2 35
  • 46.3 (n)
  • 38.24 (a)
EMI2 36
  • 29 (a)
ManyToMany
GLK1 36
  • 30 (a)
ManyToMany
HXK1 36
  • 31 (a)
ManyToMany
HXK2 36
  • 29 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons HXK2 35
  • 46.51 (n)
  • 40.48 (a)
rice
(Oryza sativa)
Liliopsida Os01g0742500 35
  • 49.73 (n)
  • 41.23 (a)
corn
(Zea mays)
Liliopsida Zm.5206 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5346 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02542 35
  • 48.2 (n)
  • 37.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hxk1 35
  • 47.46 (n)
  • 37.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11095 36
  • 47 (a)
OneToMany
Species with no ortholog for HK1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HK1 Gene

ENSEMBL:
Gene Tree for HK1 (if available)
TreeFam:
Gene Tree for HK1 (if available)

Paralogs for HK1 Gene

Paralogs for HK1 Gene

(10) SIMAP similar genes for HK1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HK1: view

Variants for HK1 Gene

Sequence variations from dbSNP and Humsavar for HK1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs12216 -- 69,401,525(+) CTCCC(C/T)GTGTG utr-variant-3-prime
rs12751 -- 69,401,215(+) GTTGC(G/T)CTGGG utr-variant-3-prime
rs13139 -- 69,401,141(+) GAGTC(C/T)GGGAT utr-variant-3-prime
rs14006 -- 69,401,072(+) GGCAG(C/T)GGCAA reference, synonymous-codon
rs749105 -- 69,384,946(+) TGATC(A/C/G)GGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HK1 Gene

Variant ID Type Subtype PubMed ID
nsv508589 CNV Loss 20534489
nsv895695 CNV Gain 21882294
dgv297e1 CNV Complex 17122850
nsv524428 CNV Loss 19592680
esv2669212 CNV Deletion 23128226
esv2738106 CNV Deletion 23290073
nsv895696 CNV Gain 21882294

Variation tolerance for HK1 Gene

Residual Variation Intolerance Score: 3.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HK1 Gene

HapMap Linkage Disequilibrium report
HK1
Human Gene Mutation Database (HGMD)
HK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HK1 Gene

Disorders for HK1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for HK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hemolytic anemia due to hexokinase deficiency
  • nonspherocytic hemolytic anemia due to hexokinase deficiency
neuropathy, hereditary motor and sensory, russe type
  • charcot-marie-tooth disease, autosomal recessive, type 4g
charcot-marie-tooth neuropathy type 4
  • dejerine-sottas syndrome
hemolytic anemia
  • anemia hemolytic
charcot-marie-tooth disease
  • dejerine-sottas disease
- elite association
Search HK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXK1_HUMAN
  • Hereditary motor and sensory neuropathy, Russe type (HMSNR) [MIM:605285]: An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. {ECO:0000269 PubMed:19536174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. {ECO:0000269 PubMed:12393545, ECO:0000269 PubMed:7655856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HK1 Gene

hemolytic anemia including type I with a reduced activity of HK1,found in RBC,lymphocytes,platelets,fibroblats,type II with a decreased activity restricted to RBC

Relevant External Links for HK1

Genetic Association Database (GAD)
HK1
Human Genome Epidemiology (HuGE) Navigator
HK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HK1
genes like me logo Genes that share disorders with HK1: view

Publications for HK1 Gene

  1. Two-color STED microscopy reveals different degrees of colocalization between hexokinase-I and the three human VDAC isoforms. (PMID: 20205711) Neumann D. … Jakobs S. (PMC Biophys 2010) 23 67
  2. 2-Methoxyestradiol induces endoreduplication through the induction of mitochondrial oxidative stress and the activation of MAPK signaling pathways. (PMID: 19883629) Ting C.M. … Mak N.K. (Biochem. Pharmacol. 2010) 23 67
  3. Role of mitogen-activated protein kinase in Zn-BC-AM PDT-induced apoptosis in nasopharyngeal carcinoma cells. (PMID: 20373469) Koon H.K. … Mak N.K. (Cell Biochem. Funct. 2010) 23 67
  4. Voltage-dependent anion channel 1-based peptides interact with hexokinase to prevent its anti-apoptotic activity. (PMID: 19049977) Arzoine L. … Shoshan-Barmatz V. (J. Biol. Chem. 2009) 23 67
  5. First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis. (PMID: 19608687) de Vooght K.M. … van Wijk R. (Haematologica 2009) 23 67

Products for HK1 Gene

  • Addgene plasmids for HK1

Sources for HK1 Gene

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